A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome. Issue 1 (15th November 2013)

• Record Type: Journal Article
• Authors: Terrone, Gaetano; Cappuccio, Gerarda; Genesio, Rita; Esposito, Annalisa; Fiorentino, Valeria; Riccitelli, Marina; Nitsch, Lucio; Brunetti‐Pierri, Nicola; Del Giudice, Ennio
• Is Part Of: American journal of medical genetics. Volume 164:Issue 1(2014.)
• Page Start: 190
• Page End: 193
• Publication Date: 2013-11-15
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36200
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>ABSTRACT</title> <sec id="ajmga36200-sec-0001" sec-type="section"> <p>We report on a 21‐year old woman with intellectual disability, autistic features, severe obesity, and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome (WHS). Array‐CGH analysis showed a 2.89 Mb deletion on chromosome 14q11.2 containing 47 known genes. The most interesting genes included in this deletion are <italic>CHD8</italic>, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and <italic>MMP14</italic>, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes. This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>